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NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000578661.1

Allele description [Variation Report for NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter)]

NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter)

Genes:
FLG-AS1:FLG antisense RNA 1 [Gene - HGNC]
FLG:filaggrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter)
HGVS:
  • NC_000001.11:g.152311876G>A
  • NG_016190.1:g.18328C>T
  • NM_002016.2:c.3010C>TMANE SELECT
  • NP_002007.1:p.Gln1004Ter
  • NP_002007.1:p.Gln1004Ter
  • LRG_1028t1:c.3010C>T
  • LRG_1028:g.18328C>T
  • LRG_1028p1:p.Gln1004Ter
  • NC_000001.10:g.152284352G>A
  • NM_002016.1:c.3010C>T
Protein change:
Q1004*
Links:
dbSNP: rs1486805206
NCBI 1000 Genomes Browser:
rs1486805206
Molecular consequence:
  • NM_002016.2:c.3010C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000681008GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 31, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000681008.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q1004X variant in the FLG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q1004X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q1004X as a pathogenic variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023